Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Types of congenital nonsyndromic ichthyoses

B. Pinkova, H. Buckova, R. Borska, L. Fajkusova

. 2020 ; 164 (4) : 357-365. [pub] 20201021

Jazyk angličtina Země Česko

Typ dokumentu časopisecké články, přehledy

Perzistentní odkaz   https://www.medvik.cz/link/bmc21023708

Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.

Citace poskytuje Crossref.org

Bibliografie atd.

Literatura

000      
00000naa a2200000 a 4500
001      
bmc21023708
003      
CZ-PrNML
005      
20211104134120.0
007      
ta
008      
211005s2020 xr f 000 0|eng||
009      
AR
024    7_
$a 10.5507/bp.2020.050 $2 doi
035    __
$a (PubMed)33087941
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xr
100    1_
$a Pinková, Blanka $7 xx0230480 $u Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic
245    10
$a Types of congenital nonsyndromic ichthyoses / $c B. Pinkova, H. Buckova, R. Borska, L. Fajkusova
504    __
$a Literatura
520    9_
$a Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.
650    _2
$a mladiství $7 D000293
650    _2
$a věkové faktory $7 D000367
650    _2
$a dítě $7 D002648
650    _2
$a předškolní dítě $7 D002675
650    _2
$a ženské pohlaví $7 D005260
650    12
$a genetická predispozice k nemoci $7 D020022
650    _2
$a lidé $7 D006801
650    _2
$a erythrodermia ichthyosiformis congenita $x klasifikace $x diagnóza $x genetika $x terapie $7 D016113
650    _2
$a ichtyóza vázaná na chromozom X $x diagnóza $x genetika $x patofyziologie $x terapie $7 D016114
650    _2
$a kojenec $7 D007223
650    _2
$a novorozenec $7 D007231
650    _2
$a mužské pohlaví $7 D008297
650    12
$a molekulární biologie $7 D008967
650    12
$a mutace $7 D009154
650    _2
$a určení symptomu $7 D063189
655    _2
$a časopisecké články $7 D016428
655    _2
$a přehledy $7 D016454
700    1_
$a Bučková, Hana, $d 1952- $7 jn20010309695 $u Children's Dermatological Department of the Paediatric Clinic, Faculty of Medicine, Masaryk University and University Hospital Brno, Czech Republic
700    1_
$a Borská, Romana $7 xx0195123 $u Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail
700    1_
$a Fajkusová, Lenka, $d 1963- $7 xx0062747 $u Center of Molecular Biology and Gene Therapy IHOK University Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic Corresponding author: Blanka Pinkova, e-mail
773    0_
$w MED00012606 $t Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia $x 1213-8118 $g Roč. 164, č. 4 (2020), s. 357-365
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33087941 $y Pubmed
910    __
$a ABA008 $b A 1502 $c 958 $y p $z 0
990    __
$a 20211005 $b ABA008
991    __
$a 20211007161540 $b ABA008
999    __
$a ok $b bmc $g 1718896 $s 1144202
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2020 $b 164 $c 4 $d 357-365 $e 20201021 $i 1213-8118 $m Biomedical papers of the Medical Faculty of the University Palacký, Olomouc Czech Republic $n Biomed. Pap. Fac. Med. Palacký Univ. Olomouc Czech Repub. (Print) $x MED00012606
LZP    __
$b NLK118 $a Pubmed-20211005

Najít záznam

Citační ukazatele

Pouze přihlášení uživatelé

Možnosti archivace

Nahrávání dat ...